Genomic variant #0000368991

Individual ID 00164460
Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.73647293G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID RECQL5_000062
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Alejandra Tavera-Tapia




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
RECQL5 NM_004259.6 ?/. - c.1202C>T - r.(?) p.(Ala401Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165328 DNA SEQ Blood - RECQL5 1 Alejandra Tavera-Tapia